LOCUS       NM_022169               3812 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ATP binding cassette subfamily G member 4 (ABCG4),
            transcript variant 1, mRNA.
ACCESSION   NM_022169
VERSION     NM_022169.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3812)
  AUTHORS   Yang,A., Alrosan,A.Z., Sharpe,L.J., Brown,A.J., Callaghan,R. and
            Gelissen,I.C.
  TITLE     Regulation of ABCG4 transporter expression by sterols and LXR
            ligands
  JOURNAL   Biochim Biophys Acta Gen Subj 1865 (1), 129769 (2021)
   PUBMED   33141061
  REMARK    GeneRIF: Regulation of ABCG4 transporter expression by sterols and
            LXR ligands.
            Erratum:[Biochim Biophys Acta Gen Subj. 2022 Aug;1866(8):130169.
            doi: 10.1016/j.bbagen.2022.130169.. PMID: 35599093]
REFERENCE   2  (bases 1 to 3812)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3812)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3812)
  AUTHORS   Mallappa,S., Neeli,P.K., Karnewar,S. and Kotamraju,S.
  TITLE     Doxorubicin induces prostate cancer drug resistance by upregulation
            of ABCG4 through GSH depletion and CREB activation: Relevance of
            statins in chemosensitization
  JOURNAL   Mol Carcinog 58 (7), 1118-1133 (2019)
   PUBMED   30834613
  REMARK    GeneRIF: Intriguingly, DU-145 cells with stably depleted ABCG4
            levels not only significantly delayed the development of the tumor
            but also greatly sensitized the tumor to a low dose of doxorubicin
            that resulted in complete tumor regression. Collectively, this data
            reinforces a novel function of ABCG4 in doxorubicin-mediated
            chemoresistance, and as a potential therapeutic target in
            drug-induced prostate cancer chemoresistance.
REFERENCE   5  (bases 1 to 3812)
  AUTHORS   Alrosan,A., Aleidi,S.M., Yang,A., Brown,A.J. and Gelissen,I.C.
  TITLE     The Adaptor Protein Alix is Involved in the Interaction Between the
            Ubiquitin Ligase NEDD4-1 and its Targets, ABCG1 and ABCG4
  JOURNAL   Int J Mol Sci 20 (11), 2714 (2019)
   PUBMED   31159502
  REMARK    GeneRIF: Alix serves as a co-factor for the interaction between the
            E3-ubiquitin ligase NEDD4-1 and the ABC transporter targets, ABCG1
            and ABCG4.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3812)
  AUTHORS   Oldfield,S., Lowry,C., Ruddick,J. and Lightman,S.
  TITLE     ABCG4: a novel human white family ABC-transporter expressed in the
            brain and eye
  JOURNAL   Biochim Biophys Acta 1591 (1-3), 175-179 (2002)
   PUBMED   12183068
  REMARK    GeneRIF: ABCG4 is expressed specifically in the brain and the eye.
REFERENCE   7  (bases 1 to 3812)
  AUTHORS   Yoshikawa,M., Yabuuchi,H., Kuroiwa,A., Ikegami,Y., Sai,Y.,
            Tamai,I., Tsuji,A., Matsuda,Y., Yoshida,H. and Ishikawa,T.
  TITLE     Molecular and cytogenetic characterization of the mouse ATP-binding
            cassette transporter Abcg4
  JOURNAL   Gene 293 (1-2), 67-75 (2002)
   PUBMED   12137944
REFERENCE   8  (bases 1 to 3812)
  AUTHORS   Engel,T., Lorkowski,S., Lueken,A., Rust,S., Schluter,B., Berger,G.,
            Cullen,P. and Assmann,G.
  TITLE     The human ABCG4 gene is regulated by oxysterols and retinoids in
            monocyte-derived macrophages
  JOURNAL   Biochem Biophys Res Commun 288 (2), 483-488 (2001)
   PUBMED   11606068
  REMARK    GeneRIF: ABCG4 may be involved in macrophage lipid homeostasis.
REFERENCE   9  (bases 1 to 3812)
  AUTHORS   Dean,M., Rzhetsky,A. and Allikmets,R.
  TITLE     The human ATP-binding cassette (ABC) transporter superfamily
  JOURNAL   Genome Res 11 (7), 1156-1166 (2001)
   PUBMED   11435397
  REMARK    Review article
REFERENCE   10 (bases 1 to 3812)
  AUTHORS   Annilo,T., Tammur,J., Hutchinson,A., Rzhetsky,A., Dean,M. and
            Allikmets,R.
  TITLE     Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4
  JOURNAL   Cytogenet Cell Genet 94 (3-4), 196-201 (2001)
   PUBMED   11856881
  REMARK    GeneRIF: Human and mouse orthologs of a new ATP-binding cassette
            gene, ABCG4: maps to human chromosome 11, is expressed abundantly
            in brain, and has alternatively-spliced isoforms
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC041091.1 and DA093690.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_022169.4.
            
            Summary: The protein encoded by this gene is a member of the
            ATP-binding cassette (ABC) transporter superfamily. ABC proteins
            transport various molecules across extra- and intra-cellular
            membranes. ABC genes are divided into seven distinct subfamilies
            (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein
            is a member of the White subfamily and plays an important role in
            cellular cholesterol homeostasis. This protein functions as either
            a homodimer or as a heterodimer with another ABC subfamily protein
            such as ABCG1. [provided by RefSeq, Jan 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1, 2, and 3
            all encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC041091.1, SRR1803615.75799.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619701.5/ ENSP00000481728.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               BC041091.1         13-127
            116-312             DA093690.1         90-286
            313-3812            BC041091.1         325-3824
FEATURES             Location/Qualifiers
     source          1..3812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..3812
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /note="ATP binding cassette subfamily G member 4"
                     /db_xref="GeneID:64137"
                     /db_xref="HGNC:HGNC:13884"
                     /db_xref="MIM:607784"
     exon            1..312
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            313..562
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             325..2265
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /note="isoform a is encoded by transcript variant 1;
                     putative ABC transporter; ATP-binding cassette, sub-family
                     G (WHITE), member 4"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family G member 4
                     isoform a"
                     /protein_id="NP_071452.2"
                     /db_xref="CCDS:CCDS8415.1"
                     /db_xref="GeneID:64137"
                     /db_xref="HGNC:HGNC:13884"
                     /db_xref="MIM:607784"
                     /translation="MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHI
                     TEAQRFSHLPKRSAVDIEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMG
                     PSGAGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLE
                     AMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLAIALELVNN
                     PPVMFFDEPTSGLDSASCFQVVSLMKSLAQGGRTIICTIHQPSAKLFEMFDKLYILSQ
                     GQCIFKGVVTNLIPYLKGLGLHCPTYHNPADFIIEVASGEYGDLNPMLFRAVQNGLCA
                     MAEKKSSPEKNEVPAPCPPCPPEVDPIESHTFATSTLTQFCILFKRTFLSILRDTVLT
                     HLRFMSHVVIGVLIGLLYLHIGDDASKVFNNTGCLFFSMLFLMFAALMPTVLTFPLEM
                     AVFMREHLNYWYSLKAYYLAKTMADVPFQVVCPVVYCSIVYWMTGQPAETSRFLLFSA
                     LATATALVAQSLGLLIGAASNSLQVATFVGPVTAIPVLLFSGFFVSFKTIPTYLQWSS
                     YLSYVRYGFEGVILTIYGMERGDLTCLEERCPFREPQSILRALDVEDAKLYMDFLVLG
                     IFFLALRLLAYLVLRYRVKSER"
     exon            563..680
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            681..813
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            814..864
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            865..1010
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1134
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1249
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1392
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1491
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1660
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1761
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1762..1920
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2039
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     exon            2040..3812
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3789..3794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /note="hexamer: AATAAA"
     polyA_site      3812
                     /gene="ABCG4"
                     /gene_synonym="WHITE2"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcgccc cgcgggctcg gaggacacag cgtccgggac caggctctgg gaagcgggtg
       61 tgcacagccc agcagagtca gggcgcgacc ccaaccgcct ctcaccatcc ttgccgtctc
      121 ctccgagccg agggccggcc ctcctgcctc gcctgccccg ccccggcccc gccccggccc
      181 gggccgccgg gaccgggagc cgggacgcgg gtgccgcagc ccgaggcagg taaggggagc
      241 cccggctctc cgtccccggt ccgtggcagc gctgagcatc ccggccccgc accggcccgg
      301 gggcgcgtca aggtcggcgg cgtgatggcg gagaaggcgc tggaggccgt gggctgtgga
      361 ctagggccgg gggctgtggc catggccgtg acgctggagg acggggcgga accccctgtg
      421 ctgaccacgc acctgaagaa ggtggagaac cacatcactg aagcccagcg cttctcccac
      481 ctacccaagc gctcagccgt ggacatcgag ttcgtggagc tgtcctattc cgtgcgggag
      541 gggccctgct ggcgcaaaag gggttataag acccttctca agtgcctctc aggtaaattc
      601 tgccgccggg agctgattgg catcatgggc ccctcagggg ctggcaagtc tacattcatg
      661 aacatcttgg caggatacag ggagtctgga atgaaggggc agatcctggt taatggaagg
      721 ccacgggagc tgaggacctt ccgcaagatg tcctgctaca tcatgcaaga tgacatgctg
      781 ctgccgcacc tcacggtgtt ggaagccatg atggtctctg ctaacctgaa gctgagtgag
      841 aagcaggagg tgaagaagga gctggtgaca gagatcctga cggcactggg cctgatgtcg
      901 tgctcccaca cgaggacagc cctgctctct ggcgggcaga ggaagcgtct ggccatcgcc
      961 ctggagctgg tcaacaaccc gcctgtcatg ttctttgatg agcccaccag tggtctggat
     1021 agcgcctctt gtttccaagt ggtgtccctc atgaagtccc tggcacaggg gggccgtacc
     1081 atcatctgca ccatccacca gcccagtgcc aagctctttg agatgtttga caagctctac
     1141 atcctgagcc agggtcagtg catcttcaaa ggcgtggtca ccaacctgat cccctatcta
     1201 aagggactcg gcttgcattg ccccacctac cacaacccgg ctgacttcat catcgaggtg
     1261 gcctctggcg agtatggaga cctgaacccc atgttgttca gggctgtgca gaatgggctg
     1321 tgcgctatgg ctgagaagaa gagcagccct gagaagaacg aggtccctgc cccatgccct
     1381 ccttgtcctc cggaagtgga tcccattgaa agccacacct ttgccaccag caccctcaca
     1441 cagttctgca tcctcttcaa gaggaccttc ctgtccatcc tcagggacac ggtcctgacc
     1501 cacctacggt tcatgtccca cgtggttatt ggcgtgctca tcggcctcct ctacctgcat
     1561 attggcgacg atgccagcaa ggtcttcaac aacaccggct gcctcttctt ctccatgctg
     1621 ttcctcatgt tcgccgccct catgccaact gtgctcacct tccccttaga gatggcggtc
     1681 ttcatgaggg agcacctcaa ctactggtac agcctcaaag cgtattacct ggccaagacc
     1741 atggctgacg tgccctttca ggtggtgtgt ccggtggtct actgcagcat tgtgtactgg
     1801 atgacgggcc agcccgctga gaccagccgc ttcctgctct tctcagccct ggccaccgcc
     1861 accgccttgg tggcccaatc tttggggctg ctgatcggag ctgcttccaa ctccctacag
     1921 gtggccactt ttgtgggccc agttaccgcc atccctgtcc tcttgttctc cggcttcttt
     1981 gtcagcttca agaccatccc cacttacctg caatggagct cctatctctc ctatgtcagg
     2041 tatggctttg agggtgtgat cctgacgatc tatggcatgg agcgaggaga cctgacatgt
     2101 ttagaggaac gctgcccgtt ccgggagcca cagagcatcc tccgagcgct ggatgtggag
     2161 gatgccaagc tctacatgga cttcctggtc ttgggcatct tcttcctagc cctgcggctg
     2221 ctggcctacc ttgtgctgcg ttaccgggtc aagtcagaga gatagaggct tgccccagcc
     2281 tgtaccccag cccctgcagc aggaagcccc cagtcccagc cctttgggac tgttttaacc
     2341 ttatagactt gggcactggt tcctggcggg gctatcctct cctcccttgg ctcctccaca
     2401 ggctggctgt cggactgcgc tcccagcctg ggctctggga gtgggggctc cagccctccc
     2461 cactatgccc aggagtcttc ccaagttgat gcggtttgta gcttcctccc tactctctcc
     2521 aacacctgca tgcaaagact actgggaggc tgctgcctcc ttcctgccca tggcaccctc
     2581 ctctgctgtc tgcctgggag ccctaggctc tctagggccc cacttacaac tgaccaaagt
     2641 ggccccctct gggggtcccc accacacaag tgtttgtaaa ctgggctgct ataaggttgg
     2701 agttccaggg ctgggccctg gtggagtcca ctggaagtcc cattatggat gttgaaatgg
     2761 acagggaagg actctggaag tctcttcctc ctcctcctct tctctccacc cctagaccct
     2821 ggctgacttg gacaatctgc caggacagaa gctgggtttt ctgtctaggt caccactccc
     2881 aatcctgggg attggagagg cctggggctg tgggatgccc catccccctc cccatcacct
     2941 ttggtggggg cagggcctgg tggcacctgt gcaataatgt ctgtgtttct ctcccacctg
     3001 ccactggaac tggagaatgc actttattct gggcgggggg tgagtggggg aagacccaac
     3061 cctcctttct cgctgcccct aacgcatgca cggtctcgtg atgctccctc cctctccgga
     3121 gtgacaggca catacatgag aacaggccat ctcagcccta cacacttgcc atcccctaca
     3181 gcacagagga agagtgatgg tggcatgctg gtggtggcgg gtgctggtgg gaggacagtg
     3241 ccaacctcct cctggggatc ccatgttgga gactctaagg ataaggctgg tgctgcccag
     3301 ggtgtctaca ggaactgcag gtgtctaccc ccaagtcttc cctcctccca agccaggggt
     3361 ggcacagggc actagatccc tggagttcag gaaccaacac aagcacaacc acgggcataa
     3421 gttggccttg gccactgcca cccacggccc tccttttgtg ctccatgctg gcatcttcac
     3481 tcccctaccc cttccccagc cactgctgct cattcaaact tctgtccatg tccctccact
     3541 gttcctatca gcaggtggcc cctgggcatc agaacagcct gccctgggca ccaggtggca
     3601 gacacactca gagcatgtct ggctttcctg gtgggtccag gctcattctg cttctgattt
     3661 cccctccccc agggctcatt ttcccccttt ttcctgtaca catccctgtc tacctcctct
     3721 caccctgcca cagattcttc ctatcacaca gggatgccag ttgtatttgt gggatttcac
     3781 ccattattaa taaaacctat atttatacag ta
//
